MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Congenital primary megaureter, obstructed form

ORPHA:238646Kl. subt.
Unknown

Congenital primary megaureter, refluxing and obstructed form

ORPHA:544578Kl. subt.

Congenital primary megaureter, refluxing form

ORPHA:238650Kl. subt.
Unknown

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542Kr.
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Kr.
Not applicable

Congenital ptosis

ORPHA:91411Kr.
Autosomal dominant, X-linked recessive

Congenital pulmonary airway malformation

ORPHA:2444Malf.
Not applicable

Congenital pulmonary airway malformation type 0

ORPHA:280827Kl. subt.

Congenital pulmonary airway malformation type 1

ORPHA:280832Kl. subt.

Congenital pulmonary airway malformation type 2

ORPHA:280840Kl. subt.

Congenital pulmonary airway malformation type 3

ORPHA:280847Kl. subt.

Congenital pulmonary airway malformation type 4

ORPHA:280854Kl. subt.

Congenital pulmonary lymphangiectasia

ORPHA:2414Kr.
Autosomal recessive

Congenital pulmonary sequestration

ORPHA:3161Malf.

Congenital pulmonary valvar stenosis

ORPHA:3189Morph.
Multigenic/multifactorial, Not applicable

Congenital pulmonary veins atresia or stenosis

ORPHA:3188Kl. gruppe
Not applicable

Congenital renal artery stenosis

ORPHA:97598Kr.

Congenital respiratory-biliary fistula

ORPHA:2040Morph.
Not applicable

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Kr.
Autosomal dominant

Congenital retinal arteriovenous communication

ORPHA:353334Morph.

Congenital rubella syndrome

ORPHA:290Kr.
Not applicable

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

ORPHA:697356Malf.
Autosomal dominant

Congenital secondary polycythemia

ORPHA:238536Kat.
Autosomal dominant, Autosomal recessive

Congenital short QT syndrome

ORPHA:51083Kr.
Autosomal dominant